Tay Sachs Disease is a genetic defect that prevents the body from producing the necessary level of the enzyme hexosaminidase A. This enzyme is responsible for the breakdown of GM2 gangliosides (a fatty substance). This results in a build-up of GM2 gangliosides in nerve cells and the brain. Over time, this build-up causes a variety of symptoms, many neurological, and deterioration until it gets so bad the nervous system can no longer support life.
Forms
Although Tay Sachs is a genetic disorder, meaning that those who have it are born with it, the level of deficiency of the enzyme may vary, creating three distinct forms of the disease. The most common form is called Classic Infantile in which the patient will begin to exhibit symptoms within the first few months of life. Patients who suffer from Juvenile Tay Sachs disease, a somewhat less severe form, will develop symptoms between the ages of 2 and 5. The least severe form, called Late Onset, may not affect the sufferer until late teens or even into his 20s.
Initial Symptoms
For Infantile Tay Sachs, the infant will appear to develop normally for several months, until the build-up of gangliosides begins to trigger symptoms. Early symptoms include seizures, easily startled, decreased eye contact, listlessness and increasing irritability. Parents may first notice differences in behaviors such as no more smiling, ceasing to roll over or crawl or a loss of the ability to grasp things. The infant will also exhibit a decrease in growth as well as slowed mental and social skills.
Symptoms of Progressed Disease
As the disease progresses, the symptoms will become worse. The ability to chew and swallow will be affected making feeding times difficult. There may be a complete loss of motor skills and the patient may become blind, deaf or both. For those with Infantile Tay Sachs, their expected life span is less than five years. For those with Juvenile Tay Sachs, they usually do not live longer than 15 years old.
Symptoms of Juvenile and Late Onset
Those with Juvenile Tay Sachs and Late-onset Tay Sachs do still produce some of the enzyme hexosaminidase A, but not enough so over time the symptoms begin to occur. The most notable symptom is a weakness in their muscles, which can affect their gait, their balance and their ability to get up from seated and lying positions. Their speech will also become slurred. As the brain becomes more affected, they may exhibit signs of mental illness. Although these symptoms affect the quality of life, those with late-onset may not have their life span affected.
Treatments
There is no cure for Tay Sachs disease. Scientists are currently studying the disease and the cause and trying to find a cure. Therefore most treatments concentrate on trying to lessen the symptoms and make the patient more comfortable. Treatments include respiratory care and trying to decrease the amount of mucus build-up in the lungs. Also a feeding tube may become necessary when the patient can no long swallow in her own. There are medications that can help with the seizures and tremors and physical therapy can be helpful to keep the muscles flexible and stimulated.
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